Lei H H, Perneger T V, Klag M J, Whelton P K, Coresh J
Department of Epidemiology, Johns Hopkins University School of Hygiene and Public Health, Baltimore, Maryland 21205-2223, USA.
J Am Soc Nephrol. 1998 Jul;9(7):1270-6. doi: 10.1681/ASN.V971270.
Family history of renal disease has been associated with an increased risk of end-stage renal disease (ESRD). It is uncertain whether this risk is mediated by familial aggregation of risk factors for ESRD, such as diabetes and hypertension. The association of ESRD with familial aggregation of renal disease was examined in a large, population-based case-control study conducted in Maryland, Virginia, West Virginia, and Washington, DC. The number of first-degree relatives who were affected with any type of renal disease was compared between 689 newly treated ESRD patients registered in the Medicare ESRD program (92% of all eligible incident cases presenting between January and July of 1991) and 361 control subjects without ESRD who were selected by random-digit dialing (90% response rate). Patients and control subjects were frequency matched by age; patients with ESRD caused by polycystic kidney disease and other known hereditary kidney diseases were excluded. Analysis was conducted using multiple logistic regression. After controlling for the proband's age, gender, race, family size, socioeconomic status, and personal and family histories of diabetes and hypertension, having one first-degree relative with renal disease increased the odds of ESRD by 1.3 (95% confidence interval, 0.7 to 2.6) and having two or more affected first-degree relatives increased the odds of ESRD by 10.4 (95% confidence interval, 2.7 to 40.2). These data support familial aggregation of renal disease in excess of that predicted by clustering of diabetes and hypertension within families, suggesting that either genetic susceptibility or environmental exposures shared within families increase the risk of developing ESRD. This risk is also much higher when two or more first-degree relatives have renal disease. Unraveling the molecular basis of this increase in risk may provide new avenues for treatment and prevention of ESRD.
肾脏疾病家族史与终末期肾病（ESRD）风险增加有关。尚不确定这种风险是否由ESRD风险因素（如糖尿病和高血压）的家族聚集介导。在马里兰州、弗吉尼亚州、西弗吉尼亚州和华盛顿特区进行的一项大型基于人群的病例对照研究中，对ESRD与肾脏疾病家族聚集的关联进行了研究。比较了在医疗保险ESRD项目中登记的689例新接受治疗的ESRD患者（占1991年1月至7月间所有符合条件的新发病例的92%）和361名通过随机数字拨号选择的无ESRD对照受试者（应答率为90%）中患任何类型肾脏疾病的一级亲属数量。患者和对照受试者按年龄进行频率匹配；排除由多囊肾病和其他已知遗传性肾脏疾病引起的ESRD患者。使用多因素逻辑回归进行分析。在控制了先证者的年龄、性别、种族、家庭规模、社会经济地位以及糖尿病和高血压的个人和家族史后，有一名患肾脏疾病的一级亲属使ESRD的几率增加了1.3（95%置信区间为0.7至2.6），有两名或更多患肾脏疾病的一级亲属使ESRD的几率增加了10.4（95%置信区间为2.7至40.2）。这些数据支持肾脏疾病的家族聚集超过了家庭内糖尿病和高血压聚集所预测的程度，表明家族内共享的遗传易感性或环境暴露增加了患ESRD的风险。当两名或更多一级亲属患肾脏疾病时，这种风险也会高得多。阐明这种风险增加的分子基础可能为ESRD的治疗和预防提供新途径。
